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Related Experiment Videos

Acrofacial dysostoses.

M Le Merrer1, M Cikuli, J Ribier

  • 1Clinique et Unité de Recherche de Génétique Médicale, INSERM U.12, Hôpital des Enfants Malades, Paris, France.

American Journal of Medical Genetics
|July 1, 1989
PubMed
Summary
This summary is machine-generated.

This case study details a female infant with severe congenital anomalies, including phocomelia and facial dysmorphism. The findings prompt a re-evaluation of acrofacial dysostosis syndromes.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Dysmorphology

Background:

  • Acrofacial dysostosis (AFD) syndromes represent a group of rare genetic disorders characterized by craniofacial abnormalities and limb malformations.
  • These syndromes, including Nager-Reynier syndrome and Genée-Wiedeman syndrome, present with significant phenotypic variability, complicating diagnosis and classification.
  • Understanding the spectrum of these disorders is crucial for genetic counseling and management.